Mutations in a gene called MECP2 can cause Rett syndrome, but there are MECP2 mutations that do not seem to destabilize the protein, for example. However, those mutations are altering how the MECP2 ...

Prostate cancer is the second most diagnosed cancer in men worldwide and a significant cause of cancer-related death.

Researchers analyzed the largest exome-sequencing dataset to date and identified new rare coding variants and genes linked to ...

The team is releasing its entire database of potential disease-causing mutations to the public. Overall, they hunted down 32 percent of all missense variants that likely trigger diseases and 57 ...

The TP53 gene is unique, with most mutations being missense and concentrated in the DNA-binding domain (DBD), possibly due to evolutionary pressures favoring a protein that balances flexibility ...

AlphaMissense, a new model from Google’s artificial intelligence team, analyzes the effects of DNA mutations and will accelerate research into rare diseases.

For example, BRCA1/2 -deficient tumors exhibit a characteristic mutational signature (signature 3) indicative of defective HR. 7 This signature was also associated with loss-of-function (LoF) ...

People tend to have about 9000 missense mutations each. But the effects of only 0.1 per cent of the 71 million possible missense mutations we could get have been identified so far.

Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The report includes ...

In the MSK-IMPACT cohort, 1,182 (17.5%) of 6,743 unique DDR gene missense mutations were newly identified as pathogenic. In breast, ovarian, pancreatic, and prostate cancers, homologous recombination ...